223 related articles for article (PubMed ID: 25732997)
1. Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.
Körver-Keularts IM; de Visser M; Bakker HD; Wanders RJ; Vansenne F; Scholte HR; Dorland L; Nicolaes GA; Spaapen LM; Smeets HJ; Hendrickx AT; van den Bosch BJ
JIMD Rep; 2015; 22():39-45. PubMed ID: 25732997
[TBL] [Abstract][Full Text] [Related]
2. SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.
Park KP; Kim HS; Kim ES; Park YE; Lee CH; Kim DS
J Clin Neurol; 2011 Mar; 7(1):25-30. PubMed ID: 21519523
[TBL] [Abstract][Full Text] [Related]
3. Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.
Tosserams A; Papadopoulos C; Jardel C; Lemière I; Romero NB; De Lonlay P; Wahbi K; Voermans N; Hogrel JY; Laforêt P
Mitochondrion; 2018 Mar; 39():26-29. PubMed ID: 28823815
[TBL] [Abstract][Full Text] [Related]
4. Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.
von Renesse A; Morales-Gonzalez S; Gill E; Salomons GS; Stenzel W; Schuelke M
JIMD Rep; 2019; 43():27-35. PubMed ID: 29654543
[TBL] [Abstract][Full Text] [Related]
5. Expanding the phenotype of de novo
King MS; Thompson K; Hopton S; He L; Kunji ERS; Taylor RW; Ortiz-Gonzalez XR
Neurol Genet; 2018 Aug; 4(4):e256. PubMed ID: 30046662
[TBL] [Abstract][Full Text] [Related]
6. Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.
Soldath P; Madsen KL; Buch AE; Duno M; Wibrand F; Vissing J
BMC Musculoskelet Disord; 2017 Oct; 18(1):419. PubMed ID: 29052516
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic spectrum of
Finsterer J; Zarrouk-Mahjoub S
Biomed Rep; 2018 Aug; 9(2):119-122. PubMed ID: 30013777
[TBL] [Abstract][Full Text] [Related]
8. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Di Fonzo A; Bordoni A; Crimi M; Sara G; Del Bo R; Bresolin N; Comi GP
Hum Mutat; 2003 Dec; 22(6):498-9. PubMed ID: 14635118
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.
Lu Y; Zhao D; Yao S; Wu S; Hong D; Wang Q; Liu J; Smeitink JAM; Yuan Y; Wang Z
J Neurol Sci; 2017 Aug; 379():137-143. PubMed ID: 28716227
[TBL] [Abstract][Full Text] [Related]
10. A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
Willis T; Hedberg-Oldfors C; Alhaswani Z; Kulshrestha R; Sewry C; Oldfors A
J Neurol; 2016 Jul; 263(7):1427-33. PubMed ID: 27177998
[TBL] [Abstract][Full Text] [Related]
11. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
Andreu AL; Hanna MG; Reichmann H; Bruno C; Penn AS; Tanji K; Pallotti F; Iwata S; Bonilla E; Lach B; Morgan-Hughes J; DiMauro S
N Engl J Med; 1999 Sep; 341(14):1037-44. PubMed ID: 10502593
[TBL] [Abstract][Full Text] [Related]
12. The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi C; Borgione E; Castello F; Lo Giudice M; Santa Paola S; Giambirtone M; Di Blasi FD; Elia M; Amato C; Città S; Gagliano C; Barbarino G; Vitello GA; Musumeci SA
Neuromuscul Disord; 2015 Apr; 25(4):333-9. PubMed ID: 25660390
[TBL] [Abstract][Full Text] [Related]
13. Two novel gene mutations in type I antithrombin deficiency.
Niiya K; Kiguchi T; Dansako H; Fujimura K; Fujimoto T; Iijima K; Tanimoto M; Harada M
Int J Hematol; 2001 Dec; 74(4):469-72. PubMed ID: 11794707
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.
Nalini A; Gayathri N
J Neurol Sci; 2011 Oct; 309(1-2):131-5. PubMed ID: 21794876
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ; Wattanasirichaigoon D; Goebel HH; Wilce M; Pelin K; Donner K; Jacob RL; Hübner C; Oexle K; Anderson JR; Verity CM; North KN; Iannaccone ST; Müller CR; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson AG; Swoboda KJ; Vigneron J; Wallgren-Pettersson C; Beggs AH; Laing NG
Nat Genet; 1999 Oct; 23(2):208-12. PubMed ID: 10508519
[TBL] [Abstract][Full Text] [Related]
16. mRNA surveillance mitigates genetic dominance in Caenorhabditis elegans.
Cali BM; Anderson P
Mol Gen Genet; 1998 Nov; 260(2-3):176-84. PubMed ID: 9862469
[TBL] [Abstract][Full Text] [Related]
17. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S
Arch Neurol; 2008 Jan; 65(1):125-31. PubMed ID: 18195150
[TBL] [Abstract][Full Text] [Related]
18. Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.
Roman-Sanchez R; Wensel TG; Wilson JH
Exp Eye Res; 2016 Apr; 145():444-449. PubMed ID: 26416182
[TBL] [Abstract][Full Text] [Related]
19. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.
Perrin-Vidoz L; Sinilnikova OM; Stoppa-Lyonnet D; Lenoir GM; Mazoyer S
Hum Mol Genet; 2002 Nov; 11(23):2805-14. PubMed ID: 12393792
[TBL] [Abstract][Full Text] [Related]
20. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.
Bateman JF; Freddi S; Nattrass G; Savarirayan R
Hum Mol Genet; 2003 Feb; 12(3):217-25. PubMed ID: 12554676
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]